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Background <p>The <i>OXTR</i> gene encodes oxytocin receptor (OXTR), a cell surface protein primarily found in the brain, uterus, and mammary glands. This receptor plays a crucial role in signal transduction by binding with the ligand oxytocin. Various polymorphisms in the <i>OXTR</i> have been linked to cause or exacerbation of specific diseases such as Asperger syndrome, Schizophrenia, and various psychotic disorders. However, the susceptibility of disease and aberrant function of the mutant OXTR variants remain unclear.</p> Results <p>In this study, a comprehensive in silico analysis was carried out to detect, characterize, and validate the harmful non-synonymous single-nucleotide polymorphisms (nsSNPs) of the human <i>OXTR</i>. Twenty different sequence and structure-based bioinformatics tools and algorithms were utilized to characterize the pathogenic impacts of nsSNPs on the structure, function, stability, and conservation of OXTR protein. Finally, a total of seven nsSNPs (P95L, Q119H, P170Q, P212Q, R272C, W288R, and C323G) were identified as the most pathogenic nsSNPs that were situated in the highly conserved region of the GPCR Rhodopsin 7 transmembrane (7TM) domain. Molecular docking studies revealed that three nsSNPs (P95L, P170Q, and R272C) had lower binding affinity with oxytocin which might cause the aberrant function of OXTR. Malfunctions of the OXTR protein might have detrimental effects on several signaling cascades that ultimately impact on several psychiatric or neurological disorders.</p> Conclusion <p>These consolidated findings of this computational analysis could aid in future studies to understand the roles of deleterious nsSNP variants in the alternation of OXTR function.</p>

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A comprehensive in silico investigation unravels the structural and functional consequences of non-synonymous single-nucleotide polymorphisms in human OXTR gene

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月20日

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  • Puja Mazumder,
  • Shuvo Chandra Das,
  • Sobuj Mondol,
  • Ibrahim Khalil Afif,
  • Mithu Howlader,
  • Shipan Das Gupta,
  • Md. Murad Hossain,
  • Md. Mijanur Rahman

摘要

Background

The OXTR gene encodes oxytocin receptor (OXTR), a cell surface protein primarily found in the brain, uterus, and mammary glands. This receptor plays a crucial role in signal transduction by binding with the ligand oxytocin. Various polymorphisms in the OXTR have been linked to cause or exacerbation of specific diseases such as Asperger syndrome, Schizophrenia, and various psychotic disorders. However, the susceptibility of disease and aberrant function of the mutant OXTR variants remain unclear.

Results

In this study, a comprehensive in silico analysis was carried out to detect, characterize, and validate the harmful non-synonymous single-nucleotide polymorphisms (nsSNPs) of the human OXTR. Twenty different sequence and structure-based bioinformatics tools and algorithms were utilized to characterize the pathogenic impacts of nsSNPs on the structure, function, stability, and conservation of OXTR protein. Finally, a total of seven nsSNPs (P95L, Q119H, P170Q, P212Q, R272C, W288R, and C323G) were identified as the most pathogenic nsSNPs that were situated in the highly conserved region of the GPCR Rhodopsin 7 transmembrane (7TM) domain. Molecular docking studies revealed that three nsSNPs (P95L, P170Q, and R272C) had lower binding affinity with oxytocin which might cause the aberrant function of OXTR. Malfunctions of the OXTR protein might have detrimental effects on several signaling cascades that ultimately impact on several psychiatric or neurological disorders.

Conclusion

These consolidated findings of this computational analysis could aid in future studies to understand the roles of deleterious nsSNP variants in the alternation of OXTR function.